1. Gene
  2. SLC25A3 - solute carrier family 25 member 3 Gene

SLC25A3 - solute carrier family 25 member 3 Gene

中文名称:溶质载体家族 25 成员 3

种属: Homo sapiens

同用名: PHC; PTP; PiC; OK/SW-cl.48

基因 ID: 5250 | 基因类型: protein coding

关于 SLC25A3

Cytogenetic location: 12q23.1 Genomic coordinates (GRCh38): 12:98,593,686-98,606,367 (from NCBI)

This gene has 16 transcripts (splice variants), 246 orthologues, 49 paralogues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 179.1), kidney (RPKM 125.7) and 25 other tissues.

功能概要

由该基因编码的蛋白质通过质子共转运或交换氢氧根离子催化磷酸盐转运到线粒体基质中。该蛋白质包含三个串联排列的相关片段,这些片段与在线粒体载体家族其他特征成员中发现的片段相关。该蛋白质的 N 端和 C 端区域均向胞质溶胶突出。已分离出多个选择性剪接的转录本变体。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene catalyzes the transport of phosphate into the mitochondrial matrix, either by proton cotransport or in exchange for hydroxyl ions. The protein contains three related segments arranged in tandem which are related to those found in Other characterized members of the mitochondrial carrier family. Both the N-terminal and C-terminal regions of this protein protrude toward the cytosol. Multiple alternatively spliced transcript variants have been isolated. [provided by RefSeq, Jul 2008]

SLC25A3 基因产物(3)

mRNA Protein Name
NM_002635.4 NP_002626.1 phosphate carrier protein, mitochondrial isoform b precursor
NM_005888.4 NP_005879.1 phosphate carrier protein, mitochondrial isoform a precursor
NM_213611.3 NP_998776.1 phosphate carrier protein, mitochondrial isoform b precursor
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables protein-containing complex binding IDA
IDA: 通过直接分析推断
23209302 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SLC25A3 蛋白结构

Mito_carr

Mito_carr: Mitochondrial carrier protein (70 - 150)

Mito_carr

Mito_carr: Mitochondrial carrier protein (165 - 246)

Mito_carr

Mito_carr: Mitochondrial carrier protein (261 - 340)

  • 0
  • 100
  • 200
  • 300
  • 362 a.a.
蛋白主名 其他名称

phosphate carrier protein, mitochondrial

phosphate transport protein

关联疾病

疾病名称 别名
Mitochondrial Phosphate Carrier Deficiency

Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome

MPCD

Neonatal Hypertrophic Cardiomyopathy, Respiratory Insufficiency, Hypotonia, And Lactic Acidosis

Paranoid Personality Disorder
Narcissistic Personality Disorder
Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus SLC25A3 RGD RGD:70986
Mus musculus SLC25A3 MGD MGI:1353498
Macaca mulatta SLC25A3 VGNC VGNC:77435
Bos taurus SLC25A3 VGNC VGNC:49965
Felis catus SLC25A3 VGNC VGNC:97630
Others SLC25A3 NCBI